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The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2

Jieun Seo1, Saeam Shin1, Sang-Woon Kim2

  • 1Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.

International Journal of Molecular Sciences
|February 25, 2023
PubMed
Summary

The 5α-reductase type 2 deficiency (5αRD2) genotype-phenotype correlation was evaluated using SRD5A2 structural categories. Mutations affecting NADPH binding showed milder phenotypes, aiding in predicting 5αRD2 severity.

Keywords:
5α-reductase deficiencySRD5A2 genedisorders of sex developmentexternal masculinization scoregenotype-phenotype correlation

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Area of Science:

  • Endocrinology
  • Genetics
  • Structural Biology

Background:

  • 5α-reductase type 2 deficiency (5αRD2) presents with variable phenotypes, complicating genotype-phenotype correlation.
  • Recent determination of the SRD5A2 crystal structure provides a basis for structural analysis.

Purpose of the Study:

  • To retrospectively evaluate the genotype-phenotype correlation in 5αRD2 patients from a structural perspective.
  • To classify SRD5A2 variants based on structural categories and compare phenotypic severity.

Main Methods:

  • Retrospective analysis of 19 Korean patients with 5αRD2.
  • Classification of SRD5A2 variants based on structural impact (NADPH-binding, structure-destabilizing, catalytic site, etc.).
  • Comparison of phenotypic severity with published data.

Main Results:

  • The p.R227Q variant (NADPH-binding category) was associated with a more masculine phenotype.
  • Compound heterozygous mutations involving p.R227Q mitigated phenotypic severity.
  • Mutations in different structural categories correlated with varying degrees of phenotypic severity (mild to severe).

Conclusions:

  • A genotype-phenotype correlation exists in 5αRD2, predictable through SRD5A2 structural analysis.
  • Categorizing SRD5A2 variants by structure aids in predicting 5αRD2 severity.
  • This approach can improve patient management and genetic counseling for 5αRD2.